Distribution of HFE genotype in relation to method of patient identification
| Genotype . | Family screening . | Routine screening . | Screening study . | Total . |
|---|---|---|---|---|
| C282Y homozygous | 23 (70%) | 38 (62%) | 13 (46%) | 74 (60%) |
| Compound heterozygous | 2 (6%) | 9 (15%) | 5 (18%) | 16 (13%) |
| H63D homozygous | 2 (6%) | 4 (7%) | 2 (7%) | 8 (7%) |
| C282Y heterozygous | 4 (12%) | 3 (5%) | 2 (7%) | 9 (7%) |
| H63D heterozygous | 2 (6%) | 5 (7%) | 3 (11%) | 10 (8%) |
| Normal | 0 | 3 (5%) | 3 (11%) | 6 (5%) |
| Total | 33 | 62 | 28 | 123 |
| Genotype . | Family screening . | Routine screening . | Screening study . | Total . |
|---|---|---|---|---|
| C282Y homozygous | 23 (70%) | 38 (62%) | 13 (46%) | 74 (60%) |
| Compound heterozygous | 2 (6%) | 9 (15%) | 5 (18%) | 16 (13%) |
| H63D homozygous | 2 (6%) | 4 (7%) | 2 (7%) | 8 (7%) |
| C282Y heterozygous | 4 (12%) | 3 (5%) | 2 (7%) | 9 (7%) |
| H63D heterozygous | 2 (6%) | 5 (7%) | 3 (11%) | 10 (8%) |
| Normal | 0 | 3 (5%) | 3 (11%) | 6 (5%) |
| Total | 33 | 62 | 28 | 123 |
C, Y, H, and D indicate single-letter amino acid codes.
Patients were identified either through the screening study, routine screening by their primary physician, or family screening. All patients were asymptomatic. Patients identified by family screening contained the highest percentage of C282Y homozygotes (70%) followed by those identified by routine screening by their primary physicians (62%). Only 46% of the patients identified through the screening study were C282Y homozygotes.